Navigation Links
Genetic sleuth solves glaucoma mystery

Dr. Michael Walter is one good gumshoe. The University of Alberta medical geneticist has cracked the case of WDR36, a gene linked to glaucoma.

Glaucoma is a leading cause of blindness in which cells in the optic nerve die, preventing the brain from understanding what patients see. Scientists have long suspected a link between WDR36 and glaucoma, but have been unable to figure out what the gene does and why some people with variations of the gene get glaucoma while others don't.

Walter unravels this mystery in an article, published in the April 1, 2009 print edition of the journal, Human Molecular Genetics, based in Oxford, England.

Walter and his team investigated a yeast gene that is extremely similar to WDR36 but much easier to experiment with. They introduced the suspected WDR36 variations into the yeast gene and tested its ability to function, and discovered that WDR36 wasn't working alone. The gene variations only affected the yeast when there were simultaneous changes to another gene, called STI1. Walter thinks that STI1 is only one of many other genes in which mutations must take place in order for WDR36 to cause glaucoma.

"Our results suggest that glaucoma is polygenetic, which means there have to be changes in several different genes in order for WDR36 to cause the disease," says Walter, a professor and chair of the Department of Medical Genetics in the Faculty of Medicine & Dentistry.

This explains why only some people who have WDR36 gene variations get glaucoma. This may also lead to further research to uncover the other genetic accomplices. "Only 10 per cent of glaucoma cases are caused by known genes, so the genes involved in this polygenetic interaction may help to explain the other 90 per cent," says Walter, who is also a professor in the Department of Ophthalmology.

In addition, Walter uncovered what WDR36 does in normal function. The gene helps make ribosomes, specialized molecules that make the proteins necessary to keep the cell functioning. Walter suspects that changes to WDR36 will affect ribosome production, and in turn affect the cell's ability to function.

But this mutation alone isn't enough to cause glaucoma. Changes also have to happen to the gene's partner in crime, the STI1 gene, which normally packages the proteins produced by WDR36's ribosomes. Walter says these findings explain the mechanics of glaucoma, how changes in these two genes lead to the illness.

"Glaucoma happens when WDR36 isn't producing ribosomes properly and STI1 isn't packaging those proteins properly you need at least these two mutations to cause the disease."

Walter says this DNA detective work may have a tangible impact on preventing and treating glaucoma. "Glaucoma is one of the few blinding eye diseases that we can actually treat. But right now we're only treating the symptoms, not the disease."

"If we can understand who gets glaucoma, then we're in a much better place to prevent it, and if we can understand why they get glaucoma, then we have some important clues to use in developing second-generation medications that treat the disease itself."


Contact: Lindsay Elleker
University of Alberta Faculty of Medicine & Dentistry

Related biology news :

1. Does the desire to consume alcohol and tobacco come from our genetic makeup?
2. Diverse genetic abnormalities lead to NF-κB activation in multiple myeloma
3. Many parents at-risk for cancer disclose genetic test results to children
4. Genetics determine optimal drug dose of common anticoagulant
5. Claims of sex-related differences in genetic association studies often not properly validated
6. American College of Medical Genetics responds to new FDA labeling decision for warfarin
7. UNC study questions FDA genetic-screening guidelines for cancer drug
8. Genome study shines light on genetic link to height
9. Selexis Announces Advanced Approach to Maximize Power of Genetic Elements for Rapid Development of High Performance Cell Lines
10. Genes, Environment and Health Initiative invests in genetic studies, environmental monitoring
11. Rutgers Genetics receives $7.8 million for autism research
Post Your Comments:
(Date:6/20/2016)... Securus Technologies, a leading provider of ... safety, investigation, corrections and monitoring announced that after ... secured the final acceptance by all three (3) ... Systems (MAS) installed. Furthermore, Securus will have contracts ... by October, 2016. MAS distinguishes between legitimate wireless ...
(Date:6/7/2016)...  Syngrafii Inc. and San Antonio Credit Union ... integrating Syngrafii,s patented LongPen™ eSignature "Wet" solution into ... result in greater convenience for SACU members and ... existing document workflow and compliance requirements. ... Highlights: ...
(Date:6/1/2016)... YORK , June 1, 2016 ... Technology in Election Administration and Criminal Identification to Boost ... to a recently released TechSci Research report, " Global ... By Region, Competition Forecast and Opportunities, 2011 - 2021", ... 24.8 billion by 2021, on account of growing security ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... , June 27, 2016   Ginkgo Bioworks , ... industrial engineering, was today awarded as one of ... of the world,s most innovative companies. Ginkgo Bioworks ... for the real world in the nutrition, health ... work directly with customers including Fortune 500 companies ...
(Date:6/24/2016)... Epic Sciences unveiled a liquid biopsy ... PARP inhibitors by targeting homologous recombination deficiency (HRD) ... test has already been incorporated into numerous clinical ... Over 230 clinical trials are investigating ... PARP, ATM, ATR, DNA-PK and WEE-1. Drugs targeting ...
(Date:6/24/2016)... , ... June 24, 2016 , ... Researchers at the ... commonly-identified miRNAs in people with peritoneal or pleural mesothelioma. Their findings are the subject ... it now. , Diagnostic biomarkers are signposts in the blood, lung fluid or ...
(Date:6/23/2016)... Wausau, WI (PRWEB) , ... June 23, 2016 ... ... probiotic supplements, is pleased to announce the launch of their brand, UP4™ Probiotics, ... supplements for over 35 years, is proud to add Target to its list ...
Breaking Biology Technology: